[Circumscribed choroidal hemangioma and non-pigmented choroidal melanoma: clinical, instrumental and molecular genetic features]. / Otgranichennaya gemangioma i bespigmentnaya melanoma khorioidei: kliniko-instrumental'nye i molekulyarno-geneticheskie osobennosti.

Circumscribed choroidal hemangioma (CCH) and early non-pigmented choroidal melanoma (CM) have similar clinical, ultrasound and morphometric features, which in some cases makes their differential diagnosis difficult. There are few studies in the literature devoted to a comparative analysis of the molecular genetic features of CCH and non-pigmented CM, and the results of those studies are contradictory. PURPOSE: This study attempts to develop a method of non-invasive molecular genetic differential diagnostics of CCH and non-pigmented CM. MATERIAL AND METHODS: Based on the results of clinical and instrumental examination methods, 60 patients (60 eyes) with CCH (n=30) and non-pigmented CM (n=30) were included in this prospective study. The control group consisted of 30 individuals without intraocular tumors. Mutations in the GNAQ/GNA11 genes were determined by real-time PCR using the analysis of genomic circulating tumor DNA isolated from peripheral blood plasma. The average follow-up period was 12.1±1.8 months. RESULTS: The study revealed a significant association of mutations in exons 4 and 5 of the GNAQ/GNA11 genes with the presence of non-pigmented CM (27/30; 90%). These mutations were not detected in the group of patients with CCH. Mutations in exons 4 and 5 of the GNAQ/GNA11 genes were also not detected in the control group of healthy individuals. CONCLUSION: This study proposes a method of non-invasive and low-cost differential diagnostics based on molecular genetic analysis and detection of mutations in exons 4 and 5 of the GNAQ and GNA11 genes, which are specific for CM (90%).

Moving Beyond Hemangioma: Interactive, Multidisciplinary, Case-Based Teaching in Vascular Anomalies for Pediatric Residents.

Introduction: Vascular anomalies are a spectrum of disorders, including vascular tumors and malformations, that often require multispecialty care. The rarity and variety of these lesions make diagnosis, treatment, and management challenging. Despite the recognition of the medical complexity and morbidity associated with vascular anomalies, there is a general lack of education on the subject for pediatric primary care and subspecialty providers. A needs assessment and the lack of an available standardized teaching tool presented an opportunity to create an educational workshop for pediatric trainees using the POGIL (process-oriented guided inquiry learning) framework. Methods: We developed a 2-hour workshop consisting of an introductory didactic followed by small- and large-group collaboration and case-based discussion. The resource included customizable content for learning assessment and evaluation. Residents completed pre- and posttest assessments of content and provided written evaluations of the teaching session. Results: Thirty-four learners in pediatrics participated in the workshop. Session evaluations were positive, with Likert responses of 4.6-4.8 out of 5 on all items. Pre- and posttest comparisons of four content questions showed no overall statistically significant changes in correct response rates. Learners indicated plans to use the clinical content in their practice and particularly appreciated the interactive teaching forum and the comprehensive overview of vascular anomalies. Discussion: Vascular anomalies are complex, potentially morbid, and often lifelong conditions; multispecialty collaboration is key to providing comprehensive care for affected patients. This customizable resource offers a framework for trainees in pediatrics to appropriately recognize, evaluate, and refer patients with vascular anomalies.

A 1-Day-Old Girl With Infantile Hemangioma and Sternal Cleft.

CASE PRESENTATION: A newborn girl presented to the hospital on the first day of life because of respiratory failure. She was born at home at 37 weeks' gestation with minimal prenatal care and was found to be small for gestational age. The patient was found to have partial sternal agenesis and sternal cleft, cutis aplasia, left facial hemangioma, micrognathia, wide-spaced nipples, and low-set ears. The mother's and baby's urine toxicology screening were positive for amphetamines. Chest radiographs on admission showed bilateral hazy opacities. CT scan of the chest showed an absent sternum with midline chest wall concavity. The patient was monitored preoperatively in the cardiac ICU for risks of arrythmia, respiratory failure, altered cardiac output, and acute cardiopulmonary decompensation.

Cortical hypertrophy in intramuscular hemangioma mimicking bone tumor.

Although hemangiomas are the most common soft tissue tumors, intramuscular hemangiomas account for only 0.8% of all vascular tumors. These lesions are rarely located adjacent to the bone and cause changes in the adjacent bone. They are often mistakenly diagnosed as bone tumors. In this study, a case of a 19-year-old male patient with intramuscular hemangioma causing cortical thickening was reported.

Interdisciplinary Management of Vascular Anomalies in the Head and Neck. / Interdisziplinäres Management vaskulärer Anomalien im Kopf-Hals-Bereich.

Vascular anomalies in the head and neck area are usually rare diseases and pose a particular diagnostic and therapeutic challenge. They are divided into vascular tumours and vascular malformations. A distinction is made between benign tumours, such as infantile haemangioma, and rare malignant tumours, such as angiosarcoma. Vascular malformations are categorised as simple malformations, mixed malformations, large vessel anomalies and those associated with other anomalies. Treatment is interdisciplinary and various modalities are available. These include clinical observation, sclerotherapy, embolisation, ablative and coagulating procedures, surgical resection and systemic drug therapy. Treatment is challenging, as vascular anomalies in the head and neck region practically always affect function and aesthetics. A better understanding of the genetic and molecular biological basis of vascular anomalies has recently led to clinical research into targeted drug therapies. This article provides an up-to-date overview of the diagnosis, clinic and treatment of vascular anomalies in the head and neck region.

Anastomosing haemangioma of adrenal gland: an unusual vascular tumour.

With only 15 reported cases, anastomosing haemangioma of adrenal is a rare entity and usually presents as adrenal incidentaloma. A hypertensive, diabetic, non-smoker man in his late 60s presented with irritative voiding symptoms. On evaluation, he was found to have a urinary bladder mass and left adrenal incidentaloma measuring 8 cm. Metabolic evaluation confirmed it to be non-functional.The patient underwent transurethral resection of bladder tumour with left laparoscopic adrenalectomy. Intraoperatively, the adrenal tumour was highly vascular with multiple feeder vessels. Grossly it was soft, encapsulated with focal grey-brown areas. Microscopically, most of adrenal gland was replaced by anastomosing proliferating capillary vessels within framework of non-endothelial supporting cells reminiscent of splenic sinusoids. The tumour was positive for CD-31, CD-34, Glut-1 and SMA.Anastomosing haemangioma is a benign entity but it must be differentiated from angiosarcoma. Characteristic imaging features are not yet defined and is, therefore, difficult to diagnose preoperatively.

Infantile Hemangiomas and Vascular Anomalies.

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution. Although benign, infantile hemangiomas can be associated with important complications. The use of beta-blockers has revolutionized the management of infantile hemangiomas. Other vascular tumors include pyogenic granulomas, congenital hemangiomas, and kaposiform hemangioendotheliomas, among others. Vascular malformations are categorized based on the type of involved vessel, including capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, and mixed vascular malformations. Expert multidisciplinary management of vascular anomalies is critical to optimize outcomes in these patients. [Pediatr Ann. 2024;53(4):e129-e137.].

[Stridor due to a subglottic hemangioma compressing the trachea]. / L'image du mois. Stridor secondaire à un hémangiome sous-glottique comprimant la trachée.

Subglottic haemangioma can cause stridor in young children, and sometimes be life-threatening. Larynx ultrasound is a useful, non-irradiating screening test, but the diagnosis must be confirmed by bronchial fibroscopy and injected chest CT scan. Nowadays propranolol is the first-line treatment. If treated early, the prognosis is excellent.

L'hémangiome sous-glottique peut être responsable d'un stridor chez le jeune enfant et, parfois, menacer le pronostic vital. L'échographie du larynx est un examen utile et non irradiant pour le dépistage, mais le diagnostic sera confirmé par une fibroscopie bronchique et un scanner thoracique avec injection de produit de contraste. Le traitement en première intention est le propranolol. Lors d'une prise en charge précoce, le pronostic est excellent.

Clinicopathological analysis of sclerosing angiomatoid nodular transformation in the spleen.

Background: Splenic sclerosing angiomatoid nodular transformation (SANT) is a rare benign nodular lesion in the red medulla of the spleen. In the past, SANT has not been consistently recognized as the name for this condition and was often misdiagnosed for other conditions. In recent years, SANT has been acknowledged by most scholars as multiple reports have been published. Aim: To assess the clinicopathological features of SANT to identify the histological characteristics of SANT to improve diagnosis and clinical treatment. Materials and Methods: We assessed 25 cases of SANT diagnosed at Zhongshan Hospital affiliated with Fudan University from September 2014 to October 2021, including 14 men and 11 women, aged 24-62 years old. Results: Fourteen cases were complicated with benign tumors of the liver, pancreas, kidney, uterus, and prostate. One case was complicated with renal clear cell carcinoma, and one was complicated with hepatocellular carcinoma. The gross neoplasm is multinodular and well defined. Histologically, angiomatoid nodules are composed of fattened, round, or irregular blood vessels, with or without red blood cells in the lumen, with unequal red blood cell extravasation, and fibrocytes around the nodules. The hemangiomatous nodules were positive for CD31 and CD34, while the vascular wall smooth muscle cells and fibrocytes around the nodules were positive for SMA. Conclusion: The diagnosis of SANT requires a combination of immunohistochemical and histological features, and early splenectomy is crucial for treatment.

The chief culprit of intractable hypoxemia: a case report of rare pulmonary arteriovenous fistula complicated with giant hemangioma.

BACKGROUND: Pulmonary arteriovenous fistula (PAVF) is a rare disease, which can lead to the direct return of unoxidized venous blood to pulmonary veins and left heart, resulting in right-to-left shunt leading to hypoxia. Long term, the right-to-left shunt will cause severe pathophysiological changes in the patient's body and pulmonary circulation, and the prognosis will be poor if PAVF is not treated timely. CASE PRESENTATION: Here, we report the case of a 71-year-old man who presented with chest tightness and shortness of breath. After a series of examinations, PAVF and giant hemangioma were diagnosed, which are difficult to operate.Transcatheter interventional therapy was initiated. The patient recovered on the third day after operation and was discharged smoothly. During the long-term follow-up of nearly 4 years after discharge, the general condition and quality of life of the patient basically returned to normal. CONCLUSIONS: PAVF is rare but very important clinical problem. When the clinical manifestations of persistent unexplained hypoxia appear, it is necessary to fully consider the possibility of PAVF. Once the diagnosis of PAVF is clear, timely treatment is recommended to avoid deterioration of the disease and affecting the prognosis.

Hemangioma of the Urinary Bladder: A Brief Narrative Review of Their Diagnosis, Histology, and Treatment Options.

BACKGROUND: Hemangioma of the urinary bladder is a rare benign tumor. Although benign, their presenting symptoms are alarming for both patients and doctors, and their rarity makes them challenging to correctly diagnosis and treat. This review paper summarizes current knowledge about hemangioma of the urinary bladder, treatment options, and follow-up modalities. SUMMARY: After the kidney, the bladder is the second most common location of hemangiomas in the urinary tract. There is painless gross hematuria on clinical presentation once the lesion has eroded the urothelium. Magnetic resonance imaging (MRI) has been reported to be valuable in diagnosing soft-tissue hemangiomas. Cystoscopic findings of a sessile, blue, multilocular mass suggest hemangioma. Most tumors are solitary, smaller than 3 cm, and have smooth or irregular surfaces. Histologically, lesions comprise numerous proliferative capillaries with thin-walled, dilated, blood-filled vessels lined with flattened endothelium. The treatment of patients with hemangioma has been controversial. It depends on the tumor size and the degree of penetration. The prognosis of these tumors is excellent. KEY MESSAGES: Despite the widespread use of MRI, CT, and endoscopy in evaluating hematuria, hemangioma remains one of the rarest bladder tumors. Moreover, only a histological examination can confirm the diagnosis. Transurethral resection, fulguration, and YAG laser ablation are standard treatments for small tumors. In terms of follow-up, cystoscopy after 6 months of treatment helps assess recurrence. In addition, MRI is a practical, noninvasive technique for follow-up of small hemangiomas.

A Rare Case of Intraosseous Papillary Hemangioma of the Head and Neck.

Papillary hemangioma is a novel variant of intravascular hemangioma. It is more common in adults and has a male predominance. Most tumors reported so far are solitary and cutaneous. Here we present a rare case of an intraosseous papillary hemangioma involving the frontal bone. Brain imaging in a 69-year-old man with a slowly enlarging swelling on the right frontal area following an accidental fall demonstrated a 4.5 cm × 1.7 cm × 4.2 cm mass originating from the right frontal bone, with a tiny defect on the orbital roof. A malignant process was favored, and the mass was removed. Histopathology revealed a vascular lesion showing intraosseous distribution with foci of extension into the fibrous connective tissue. There were areas of plump endothelial cells with intracytoplasmic hyaline globules arranged in papillary configuration. The lesional cells were immunoreactive with CD34. AE1/AE3, EMA, PR, D2-40, inhibin, and S100 stains were negative. Ki-67 was low. This is the first intraosseous and second noncutaneous papillary hemangioma. Clinically it differs from other cases by the presence of trauma as a preceding event. Since its prognosis is unknown such patients should be monitored for recurrence or malignant transformation.

New insights on circumscribed choroidal hemangioma: "bench to bedside".

Circumscribed choroidal hemangioma is a rare vascular hamartoma of the choroid, presenting as a red-orange mass at the posterior pole on fundoscopic examination. Despite its benign origin, associated complications such as subretinal fluid, serous retinal detachment, retinoschisis and neovascular glaucoma may lead to serious visual impairment in more than half patients. Because of its similarity to amelanotic choroidal melanoma and choroidal metastasis, differential diagnosis is still challenging for specialists. Multimodal imaging such as ultrasonography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, and optical coherence tomography angiography guides the clinician to the correct diagnosis and the proper follow-up. Treatment is indicated in symptomatic cases in order to resolve exudation and improve visual acuity. Treatment options include photocoagulation, transpupillary thermotherapy, radiation therapy, photodynamic therapy and anti-vascular endothelial growth factor therapy. Currently, photodynamic therapy is the treatment of choice due to its effectiveness and safety. The purpose of this review is to describe the latest knowledge in the etiopathogenesis of the circumscribed choroidal hemangioma, the most recent multimodal imaging findings, and the available treatment options.

Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.

We describe a 2-month-old female infant with macroglossia, macrosomia, omphalocele, neonatal hypoglycemia, earlobe creases, low nasal bridge, midface retrusion, syndromic facies and multiple cutaneous and hepatic hemangiomas (HH). Genetic evaluation confirmed the diagnosis of Beckwith-Wiedemann Syndrome (BWS) with mosaic uniparental disomy 11 as the underlying genetic mechanism suggested by partial hypermethylation of H19/IGF2:IG-DMR and partial hypomethylation of KCNQ1OT1:TSS-DMR on chromosome 11p15.5. Pediatric endocrinology and cardiology assessments were normal. No malignant liver or renal tumors were detected during the follow-up period. Treatment with propranolol was started for the multiple HH, according to international recommendations. At 3-, 6-, and 9-month follow up, a gradual decrease in the size of the hemangiomas and AFP levels was observed, without side effects. This is the fifth case in the literature combining HH and BWS, and among these, the third case with this specific genetic defect suggesting a possible association between HH and BWS caused by 11 paternal uniparental disomy [upd(11)pat]. The case also highlights that if treatment is warranted, then oral propranolol can be used for the management of infantile HH in BWS patients similarly to non-BWS patients.

PHOTODYNAMIC THERAPY-INDUCED ACUTE EXUDATIVE MACULOPATHY IN A CASE SERIES OF CIRCUMSCRIBED CHOROIDAL HEMANGIOMA.

PURPOSE: To describe the incidence, features, and clinical outcomes of photodynamic therapy-induced acute exudative maculopathy (PAEM) in circumscribed choroidal hemangioma. METHODS: Prospective series of 10 patients who underwent standard-fluence photodynamic therapy for circumscribed choroidal hemangioma. Best-corrected visual acuity in the Early Treatment Diabetic Retinopathy Score and swept-source optical coherence tomography were performed before PDT and 3 days and 1 month after PDT. Central retinal thickness, circumscribed choroidal hemangioma retinal thickness, and subretinal fluid were measured. Photodynamic therapy-induced acute exudative maculopathy was considered as an increase ≥50 µ m in subretinal fluid or intraretinal fluid or the appearance of fibrin 3 days after photodynamic therapy. RESULTS: Six men and four women were included; median age was 55 years (19-69 years). The incidence rate of PAEM was 7 of 10. Five PAEM patients showed an increase in intraretinal fluid, two in subretinal fluid, and one developed abundant fibrin. Median best-corrected visual acuity at baseline was 57.5 letters (5-76 letters) being stable at 1 month (64 letters; 5-80) ( P = 0.03). Median central retinal thickness increased from 516 µ m (262-1,265 µ m) to 664.5 µ m after 3 days and diminished to 245 µ m after 1 month (156-1,363) ( P ≤ 0.022). In 6 of 7 of PAEM, a complete resolution of the fluid was obtained. CONCLUSION: Photodynamic therapy-induced acute exudative maculopathy was frequent in circumscribed choroidal hemangioma, although a favorable prognosis was observed in most cases.

A New Approach for Diagnosis and Surveillance of Infantile Subglottic Hemangioma in the Era of Propranolol Use: A Case Series.

OBJECTIVE: To report our institutional experience in diagnosing and surveilling patients with infantile subglottic hemangioma (SGH) using in-office flexible fiberoptic laryngoscopy (FFL) with video technology, without requiring operative endoscopy in the era of propranolol use. METHODS: A retrospective case series was conducted on 4 children diagnosed with SGH between 2016 and 2022 at our institution. RESULTS: Awake FFL with video technology provided adequate visualization of SGH lesions for diagnosis, without any complications. Serial examinations of the airway were performed in the outpatient setting and each SGH gradually regressed, with marked improvement in respiratory symptoms within 48 hours of oral propranolol initiation. CONCLUSION: Our findings showed that in select patients, FFL with video technology can successfully identify SGH lesions without general anesthesia exposure. FFL may be used as a low-risk screening tool for propranolol therapy initiation in some patients, but operative endoscopy should remain the gold standard procedure for others. By utilizing FFL in this manner, it is possible to diagnose SGH lesions and start propranolol therapy without exposing all patients to the risks of operative endoscopy.